Publicacións nas que colabora con Julio Pardo Fernández (9)

2021

  1. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

2020

  1. Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

    Cerebellum, Vol. 19, Núm. 4, pp. 501-509

  2. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

    Movement Disorders, Vol. 32, Núm. 2, pp. 264-273

  3. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503

1995

  1. Genetic Markers: Association Study in Migraine

    Cephalalgia, Vol. 15, Núm. 3, pp. 200-204